No paralogue variants have been mapped to residue 680 for SCN5A.
| SCN5A | ARQR-A-LSAVSVLTSA----L-EELE-ES>R<---------------------HK--CPPC- | 686 |
| SCN1A | QRQR-A-MSIASILTNT----V-EELE-ES>R<---------------------QK--CPPC- | 737 |
| SCN2A | SRQR-A-MSIASILTNT----M-EELE-ES>R<---------------------QK--CPPC- | 728 |
| SCN3A | GRQR-A-VSIASILTNT----M-EELE-ES>R<---------------------QK--CPPC- | 729 |
| SCN4A | APRQ-S-SSGDSGISDA----M-EELE-EA>H<---------------------QK--CPPW- | 547 |
| SCN7A | LRHK-------------------EELE-KS>K<---------------------KI--CPLY- | 474 |
| SCN8A | RKDR-I-NSIMSVVTNTL---V-EELE-ES>Q<---------------------RK--CPPC- | 722 |
| SCN9A | LRQR-A-MSRASILTNT----V-EELE-ES>R<---------------------QK--CPPW- | 702 |
| SCN10A | RAQR-A-MSVVSIITSV----L-EELE-ES>E<---------------------QK--CPPC- | 634 |
| SCN11A | QRQR-A-LSAVSILTIT----M-KEQE-KS>Q<---------------------EP--CLPC- | 546 |
| CACNA1A | -DIA-S-VG--------------------->-<---------------------SP--FARA- | 456 |
| CACNA1B | -DLC-A-VG--------------------->-<---------------------SP--FARA- | 452 |
| CACNA1C | -IEGEN-CG--------------------->-<--------------------------ARL- | 493 |
| CACNA1D | -NRG-C-CGSLWCWWR-------RRGA-AK>A<---------------------GPSGCRRW- | 512 |
| CACNA1E | -DIS-S-VG--------------------->-<---------------------TP--LARA- | 445 |
| CACNA1F | -P-A-SDTGSMTETQG-------DEDE-EE>G<---------------------ALASCTRC- | 498 |
| CACNA1G | -YCA-R-AG-----AG-----EVELADREM>P<-DSDSEAVYEFTQDAQHSDLRDPH-SRRQ- | 713 |
| CACNA1H | -YCT-R-AL-----ED-P---EGELSGSES>G<-DSDGRGVYEFTQDVRHGDRWDP--TRPPR | 747 |
| CACNA1I | -CCQ-H-ED-----GR-RPSGLGS---TDS>G<QEGSGSGSSAGGEDE-A---DGD--GARS- | 596 |
| CACNA1S | -----------------------------A>G<------------------------------ | 403 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R680H | c.2039G>A | Inherited Arrhythmia | LQTS | rs199473142 | SIFT: tolerated Polyphen: benign |
| Reports | Other Cardiac Phenotype | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Other Cardiac Phenotype | The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current. Physiol Genomics. 2011 43(9):461-6. 21385947 | ||||
| Other Cardiac Phenotype | Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 2007 115(3):368-76. 17210841 | ||||
| Inherited Arrhythmia | LQTS | Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc. 2012 87(6):524-39. doi: 10.1016/j.mayocp.2012.02.017. 22677073 | |||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||
| p.R680C | c.2038C>T | Putative Benign | rs376173627 | SIFT: deleterious Polyphen: benign | |